Varaico: Literature-Extracted Genetic Variants

Gene:MON1A

MON1A

14 papers

Pfam Domains

Fuz_longin_1aa 253–375UCSCFirst Longin domain of FUZ, MON1 and HPS1
Fuz_longin_1aa 253–375UCSCFirst Longin domain of FUZ, MON1 and HPS1
Fuz_longin_2aa 413–512UCSCSecond Longin domain of FUZ, MON1 and HPS1

Gene Aliases

HGNC Name

MON1 vesicular trafficking associated A

HGNC Alias Symbols

MGC13272; SAND1

Papers
RefSeq ID
Protein change
DNA change
3 papers
NM_032355.4
p.S162R
c.486T>A
1 paper
NM_032355.4
p.G43R
c.127G>C
1 paper
NM_032355.4
p.Q109L
c.326A>T
1 paper
NM_032355.4
p.D143V
c.428A>T
1 paper
NM_032355.4
p.E145Q
c.433G>C
1 paper
NM_032355.4
p.A164T
c.490G>A
1 paper
NM_032355.4
p.A187T
c.559G>A
1 paper
NM_032355.4
p.V222L
c.664G>T
1 paper
NM_032355.4
p.Q227Q
c.681G>A
1 paper
NM_032355.4
p.E428K
c.1282G>A
1 paper
NM_032355.4
p.N503K
c.1509C>G
1 paper
NM_032355.4
p.N503K
c.1509C>A
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